title: The mode of inheritance of Scheuermann's disease.
abstract: The mode of Scheuermann's disease inheritance and its phenotypic traits in probands and their relatives were studied in 90 pedigrees (90 probands and 385 relatives). The disorder was identified as a genetically related pathology inherited by autosomal dominant type, controlled by a mutant major gene, as a kyphotic deformity without signs of vertebral bodies' anomaly and torsion. Morphological and biochemical studies showed disturbance in the structure of vertebral growth plate anterior aspects at the level of deformity, defects in proliferation and differentiation of chondrocytes, and change in proteoglycan spectrum in cells and matrix. Twelve candidate genes were studied in chondrocytes isolated from vertebral growth plates of patients with Scheuermann's disease. The study results included disorder in the IHH gene expression and preservation of the expression of PAX1, two aggrecan isoforms, link protein, types I and II collagen, lumican, versican, growth hormone and growth factor receptor genes, and proliferation gene. Preservation of the SOX9 gene (transcription gene) probably indicates posttranscriptional genetic disorders. The study is under way.
authors.affiliation: Institute of Traumatology and Orthopaedics, Frunze Street 17, Novosibirsk 630091, Russia.
authors.forename: A M
authors.initials: AM
authors.lastname: Zaidman
authors.forename: M N
authors.initials: MN
authors.lastname: Zaidman
authors.forename: E L
authors.initials: EL
authors.lastname: Strokova
authors.forename: A V
authors.initials: AV
authors.lastname: Korel
authors.forename: E V
authors.initials: EV
authors.lastname: Kalashnikova
authors.forename: T V
authors.initials: TV
authors.lastname: Rusova
authors.forename: M V
authors.initials: MV
authors.lastname: Mikhailovsky
mesh_terms: D000328:Adult; D000368:Aged; D002454:Cell Differentiation / Q000235:genetics*; D049109:Cell Proliferation; D019902:Chondrocytes / Q000473:pathology*; D005260:Female; D056726:Genetic Association Studies; D006132:Growth Plate / Q000254:growth & development* / Q000378:metabolism; D053823:Hedgehog Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D051761:Paired Box Transcription Factors / Q000235:genetics; D012544:Scheuermann Disease / Q000235:genetics* / Q000473:pathology
chemical_list: D053823:Hedgehog Proteins; C509246:IHH protein, human; D051761:Paired Box Transcription Factors; C070835:PAX1 transcription factor